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SERAC1脂肪酶结构域外首个影响细胞内胆固醇转运的错义突变。

First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking.

作者信息

Rodríguez-García María Elena, Martín-Hernández Elena, de Aragón Ana Martínez, García-Silva María Teresa, Quijada-Fraile Pilar, Arenas Joaquín, Martín Miguel A, Martínez-Azorín Francisco

机构信息

Laboratorio de Enfermedades Mitocondriales, Instituto de Investigación Hospital 12 de Octubre (i+12), Centro de Actividades Ambulatorias (CAA), 6ª Planta, Bloque E, Avda. Córdoba s/n, E-28041, Madrid, Spain.

Unidad Pediátrica de Enfermedades Raras, Enfermedades Mitocondriales y Metabólicas Hereditarias, Hospital 12 de Octubre, E-28041, Madrid, Spain.

出版信息

Neurogenetics. 2016 Jan;17(1):51-6. doi: 10.1007/s10048-015-0463-z. Epub 2015 Oct 7.

DOI:10.1007/s10048-015-0463-z
PMID:26445863
Abstract

We report the clinical and genetic findings in a Spanish boy who presented MEGDEL syndrome, a very rare inborn error of metabolism. Whole-exome sequencing uncovered a new homozygous mutation in the serine active site containing 1 (SERAC1) gene, which is essential for both mitochondrial function and intracellular cholesterol trafficking. Functional studies in patient fibroblasts showed that p.D224G mutation affects the intracellular cholesterol trafficking. Only three missense mutations in this gene have been described before, being p.D224G the first missense mutation outside of the SERAC1 serine-lipase domain. Therefore, we conclude that the defect in cholesterol trafficking is not limited to alterations in this specific part of the protein.

摘要

我们报告了一名患有MEGDEL综合征（一种非常罕见的先天性代谢缺陷病）的西班牙男孩的临床和基因研究结果。全外显子组测序发现丝氨酸活性位点包含蛋白1（SERAC1）基因存在一个新的纯合突变，该基因对于线粒体功能和细胞内胆固醇转运均至关重要。对患者成纤维细胞的功能研究表明，p.D224G突变影响细胞内胆固醇转运。此前仅报道过该基因的三个错义突变，p.D224G是SERAC1丝氨酸脂肪酶结构域外的首个错义突变。因此，我们得出结论，胆固醇转运缺陷并不局限于该蛋白这一特定部位的改变。

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本文引用的文献

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Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome.聚焦MEGDEL：基底神经节在肌张力障碍耳聋综合征中有独特受累表现。
Neuropediatrics. 2015 Apr;46(2):98-103. doi: 10.1055/s-0034-1399755. Epub 2015 Feb 2.
2
Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy.一名线粒体脑病患者中由含丝氨酸活性位点1（SERAC1）突变引起的管状聚集物。
Neuropathol Appl Neurobiol. 2015 Apr;41(3):399-402. doi: 10.1111/nan.12190.
3
MEGDEL Syndrome in a Child From Palestine: Report of a Novel Mutation in SERAC1 Gene.
SERAC1 突变导致的进行性耳聋 - 肌张力障碍：67 例病例研究
Ann Neurol. 2017 Dec;82(6):1004-1015. doi: 10.1002/ana.25110.
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J Child Neurol. 2015 Jul;30(8):1053-6. doi: 10.1177/0883073814541474. Epub 2014 Jul 22.
4
Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology.个体外显子组分析在不明病因小儿肝衰竭诊断和管理中的应用
J Hepatol. 2014 Nov;61(5):1056-63. doi: 10.1016/j.jhep.2014.06.038. Epub 2014 Jul 10.
5
The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations.不断扩展的MEGDEL综合征表型：一名患有SERAC1突变儿童的视神经萎缩、小头畸形和肌阵挛性癫痫
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6
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7
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